Hiort O, Artlich A, Wiebicke W
Kinderklinik, Medizinischen Universität zu Lübeck.
Pneumologie. 1991 Nov;45(11):910-2.
We report a 13-year old boy with a chronic pseudomonas bronchitis who was first diagnosed as having cystic fibrosis at this age because of an elevated sweat chloride employing pilocarpine-iontophoresis. He is heterozygote for the gene mutation Delta F508. We point out the often moderate course of illness in compound heterozygotes.
我们报告一名13岁患有慢性铜绿假单胞菌支气管炎的男孩,他在这个年龄首次因毛果芸香碱离子电渗法检测出汗氯化物升高而被诊断为囊性纤维化。他是基因突变Delta F508的杂合子。我们指出复合杂合子患者的病程通常较为温和。